Mutation Details for c.1678A>G
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cDNA Name
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c.1678A>G
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Protein Name
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p.Arg560Gly
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Exon or Intron
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exon 12
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Legacy Exon or Intron
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exon 11
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R560G
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Other Details
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This change has been detected by DGGE analysis and direct sequencing. The mutation creates a Mnl I restriction site
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Contributors
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T. Casals, MD. Ramos, J. Gimenez, M.Sanchez-Solis
2002-01-01
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Institute
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CGMM-IRO, Barcelona, Spain ospital V. Arrixaca, Murcia, Spain
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Submitted Phenotype Details
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The patient (female, 1y 10m) was diagnosed by dehydration and PI at 4 months. She carries the 2789+5G->A mutation on the other allele.
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Reference
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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